| RFLP Analysis of a Gene for Blood Coagulation Factor IX in Korean. |
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Moosik Kwon, Jeong Min Lee, Bong Kyun Jeon, Sung Gwan Oh, Chong Suk Ryou, Bo Hoon Oh |
1Department of Genetic Engineering, Sungkyunkwan University, Suwon, Korea.
2Dr. Oh's Ob & Gyn Clinics, Seoul, Korea. |
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| Abstract |
OBJECTIVE
The purpose of this study was to investigate the methods for analysis of restriction fragment length polymorphisms of hemophilia B (coagulation factorIX) gene in Korean population. METHODS: Genomic DNAs were extracted from 40 Korean females. In order to amplify genomic DNAs at the region of the polymorphic sites, two sets of primers (Hha I and Dde I) were synthesized. The primers were named as FIX1, FIX2 for Hha I, and Dde I 59, Dde I 39 for Dde I, respectively. Hha I primers annealed 3'-flanking region of the FactorIX gene and amplified 230 bp long fragment. The PCR fragment (230 bp) treated with Hha I endonuclease produced two fragments (150 bp and 80 bp), when the polymorphic site existed. Dde I primers annealed the region of the first intron of Factor IX gene and amplified 319 bp long fragments. People cases with Dde I polymorphic site are supposed to produce 369 bp long fragment. Results: It has been found that seven (14 X chromosomes) out of forty individuals showed Hha I polymorphism. However, none of the experimental People cases showed the Dde I polymorphism. CONCLUSIONS: By the analysis of 80 chromosomes, the PICs calculated from allele frequency of Hha I-RFLP (0.175/0.825) and that of Dde I-RFLP (0.0/1.0) were 0.289=[1-(0.1752+0.8252)] and 0=[1-(02+12)], respectively. From these results, it can be postulated that Hha I and Dde I polymorphisms of the Factor IX gene in Korean exhibited different patterns from those of Caucasian. |
| Key Words:
Blood coagulation factor IX, Hemophilia B, RFLP, PCR, Hha I, Dde I |
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